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Case Report: Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation
We treated a patient with multiple congenital joint dislocations and facial dysmorphisms consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of a novel, de novo 508G>C point mutation resulting in substitution of proline for a highly conserved alanine (A170P). T...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer-Verlag
2008
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2384041/ https://ncbi.nlm.nih.gov/pubmed/18322662 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11999-008-0196-5 |
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